Literature DB >> 12872845

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

W G Ng1, Y K Xu, L J Wong, F R Kaufman, N R M Buist, G N Donnell.   

Abstract

We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.

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Year:  2003        PMID： 12872845     DOI： 10.1023/a:1024039916476

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  14 in total

1.  Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.

Authors:  P Briones; M Girós; V Martinez
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

2.  GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.

Authors:  N G WONGIN; W R BERGREN; G N DONNELL
Journal:  Nature       Date:  1964-08-22       Impact factor: 49.962

3.  Galactosaemia: relationship of IQ to biochemical control and genotype.

Authors:  M A Cleary; L E Heptinstall; J E Wraith; J H Walter
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients.

Authors:  Y K Xu; F R Kaufman; G N Donnell; T Giudici; O Alfi; W G Ng
Journal:  Clin Chim Acta       Date:  1995-08-31       Impact factor: 3.786

5.  Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

Authors:  J K Reichardt; P Berg
Journal:  Mol Biol Med       Date:  1988-04

6.  The molecular basis of transferase galactosaemia in South African negroids.

Authors:  N Manga; T Jenkins; H Jackson; D A Whittaker; A B Lane
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

7.  Curious neurologic sequelae in galactosemia.

Authors:  W Lo; S Packman; S Nash; K Schmidt; S Ireland; I Diamond; W Ng; G Donnell
Journal:  Pediatrics       Date:  1984-03       Impact factor: 7.124

8.  Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Authors:  N Gregersen; A I Blakemore; V Winter; B Andresen; S Kølvraa; L Bolund; D Curtis; P C Engel
Journal:  Clin Chim Acta       Date:  1991-11-09       Impact factor: 3.786

9.  Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

Authors:  F R Kaufman; J K Reichardt; W G Ng; Y K Xu; F R Manis; C McBride-Chang; J A Wolff
Journal:  J Pediatr       Date:  1994-08       Impact factor: 4.406

10.  The human galactose-1-phosphate uridyltransferase gene.

Authors:  N D Leslie; E B Immerman; J E Flach; M Florez; J L Fridovich-Keil; L J Elsas
Journal:  Genomics       Date:  1992-10       Impact factor: 5.736
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  5 in total

1.  Association of fungal sepsis and galactosemia.

Authors:  Sanjay Verma; Bhavneet Bharti; P Inusha
Journal:  Indian J Pediatr       Date:  2010-06-08       Impact factor: 1.967

2.  Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.

Authors:  Thomas J McCorvie; Tyler J Gleason; Judith L Fridovich-Keil; David J Timson
Journal:  Biochim Biophys Acta       Date:  2013-04-11

3.  Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

Authors:  Peter Schadewaldt; Hans-Werner Hammen; Loganathan Kamalanathan; Udo Wendel; Martin Schwarz; Annet M Bosch; Nele Guion; Mirian Janssen; Godfried H J Boers
Journal:  Eur J Pediatr       Date:  2008-09-24       Impact factor: 3.183

4.  Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.

Authors:  J S Camelo; M I Machado Fernandes; L M Zanini Maciel; C A Scrideli; J L Ferreira Santos; A S Camargo; C Souza Passador; P Carvalho Leite; D Ruffato Resende; L Oliveira de Souza; R Giugliani; S Moysés Jorge
Journal:  J Inherit Metab Dis       Date:  2009-05-04       Impact factor: 4.982

5.  Cognitive functioning in patients with classical galactosemia: a systematic review.

Authors:  Merel E Hermans; Mendy M Welsink-Karssies; Annet M Bosch; Kim J Oostrom; Gert J Geurtsen
Journal:  Orphanet J Rare Dis       Date:  2019-10-18       Impact factor: 4.123
  5 in total

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